Conditions / Syndrome
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
info · Syndrome
An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1.
Signs and symptoms
- Microdontia
- Selective tooth agenesis
- Sparse eyebrow
- Camptodactyly
- Ectodermal dysplasia
- Joint contracture of the hand
- Sparse scalp hair
- Macular dystrophy
- Sparse eyelashes
- Widely spaced teeth
Also known as: EEM syndrome; EEMS; ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome